Lv7109
3530 积分 2025-05-15 加入
A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness
7天前
已完结
FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum
11天前
已完结
Hereditary Thrombotic Thrombocytopenic Purpura in a 9-Month-old: Diagnosing and Managing an Ultra-rare Disorder
26天前
已完结
Clinical and molecular studies in two families with Fraser syndrome: a new FRAS1 gene mutation, prenatal ultrasound findings and implications for genetic counselling
27天前
已关闭
High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses
1个月前
已完结
Dissection of mendelian predisposition and complex genetic architecture of craniovertebral junction malformation
1个月前
已完结
Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families
2个月前
已完结
First trimester megacystis caused by a homozygous variant in MYL9
2个月前
已完结
Spectrum of variants in a large Chinese Gitelman syndrome cohort
3个月前
已完结
Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies
3个月前
已完结
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